A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4761190



Internal ID20537050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132792240..132792240hg38UCSC Ensembl
chr6:133113379..133113379hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16279260
Samples
Known GenesSLC18B1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4761190
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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